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Periventricular nodular heterotopia 6(PVNH6)

MedGen UID:
816202
Concept ID:
C3809872
Disease or Syndrome
Synonym: PVNH6
 
Gene (location): ERMARD (6q27)
 
Monarch Initiative: MONDO:0014240
OMIM®: 615544

Definition

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. [from MONDO]

Clinical features

From HPO
Focal motor seizure
MedGen UID:
5237
Concept ID:
C0016399
Disease or Syndrome
A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Periventricular nodular heterotopia
MedGen UID:
358387
Concept ID:
C1868720
Disease or Syndrome
Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Mild global developmental delay
MedGen UID:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Recent clinical studies

Etiology

Lee KS, Seunarine KK, Barnes N, Tahir MZ, Varadkar SM, Tisdall MM
J Neurosurg Pediatr 2023 Aug 1;32(2):214-222. Epub 2023 May 19 doi: 10.3171/2023.4.PEDS2318. PMID: 37209074
Kunpalin Y, Sichitiu J, Krishan P, Blaser S, Shannon P, Van Mieghem T, Shinar S
Ultrasound Obstet Gynecol 2023 Sep;62(3):383-390. doi: 10.1002/uog.26221. PMID: 37058393
Neuhaus E, Hattingen E, Breuer S, Steidl E, Polomac N, Rosenow F, Rüber T, Herrmann E, Ecker C, Kushan L, Lin A, Vajdi A, Bearden CE, Jurcoane A
AJNR Am J Neuroradiol 2021 Nov;42(11):2070-2076. Epub 2021 Oct 7 doi: 10.3174/ajnr.A7283. PMID: 34620586Free PMC Article
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
Brain 2013 Nov;136(Pt 11):3378-94. Epub 2013 Sep 20 doi: 10.1093/brain/awt249. PMID: 24056535

Diagnosis

Wang Y, Wu B, Li J, Shu X
Int Heart J 2022 Nov 30;63(6):1201-1204. Epub 2022 Nov 12 doi: 10.1536/ihj.22-156. PMID: 36372407
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Bardón-Cancho EJ, Muñoz-Jiménez L, Vázquez-López M, Ruíz-Martín Y, García-Morín M, Barredo-Valderrama E
Pediatr Neurol 2014 Sep;51(3):461-4. Epub 2014 May 15 doi: 10.1016/j.pediatrneurol.2014.05.008. PMID: 25160555
González G, Vedolin L, Barry B, Poduri A, Walsh C, Barkovich AJ
AJNR Am J Neuroradiol 2013 Apr;34(4):877-83. Epub 2012 Oct 11 doi: 10.3174/ajnr.A3312. PMID: 23064591Free PMC Article
Lee CH, Wai YY, Wu T
Chang Gung Med J 2011 Nov-Dec;34(6):628-35. PMID: 22196066

Therapy

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R
Eur J Hum Genet 2019 Jun;27(6):909-918. Epub 2019 Jan 25 doi: 10.1038/s41431-019-0335-3. PMID: 30683929Free PMC Article
Bourdillon P, Cucherat M, Isnard J, Ostrowsky-Coste K, Catenoix H, Guénot M, Rheims S
Epilepsia 2018 Dec;59(12):2296-2304. Epub 2018 Oct 21 doi: 10.1111/epi.14584. PMID: 30345535
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA
Neurology 2012 Jan 24;78(4):269-78. Epub 2012 Jan 11 doi: 10.1212/WNL.0b013e31824365e4. PMID: 22238415Free PMC Article
Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H
Acta Neuropathol 2002 Dec;104(6):649-57. Epub 2002 Jul 23 doi: 10.1007/s00401-002-0594-9. PMID: 12410386

Prognosis

Lotan E, Tomer O, Tavor I, Blatt I, Goldberg-Stern H, Hoffmann C, Tsarfaty G, Tanne D, Assaf Y
Neuroradiology 2021 Feb;63(2):225-234. Epub 2020 Sep 25 doi: 10.1007/s00234-020-02561-2. PMID: 32975591
Popescu CE, Mai R, Sara R, Lizio D, Zanni D, Rossetti C, Caobelli F
J Neuroimaging 2019 Jul;29(4):512-520. Epub 2019 Apr 22 doi: 10.1111/jon.12620. PMID: 31006947
d'Orsi G, Tinuper P, Bisulli F, Zaniboni A, Bernardi B, Rubboli G, Riva R, Michelucci R, Volpi L, Tassinari CA, Baruzzi A
J Neurol Neurosurg Psychiatry 2004 Jun;75(6):873-8. doi: 10.1136/jnnp.2003.024315. PMID: 15146004Free PMC Article
Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R
Neurology 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. PMID: 11914408
Li LM, Dubeau F, Andermann F, Fish DR, Watson C, Cascino GD, Berkovic SF, Moran N, Duncan JS, Olivier A, Leblanc R, Harkness W
Ann Neurol 1997 May;41(5):662-8. doi: 10.1002/ana.410410516. PMID: 9153529

Clinical prediction guides

Lotan E, Tomer O, Tavor I, Blatt I, Goldberg-Stern H, Hoffmann C, Tsarfaty G, Tanne D, Assaf Y
Neuroradiology 2021 Feb;63(2):225-234. Epub 2020 Sep 25 doi: 10.1007/s00234-020-02561-2. PMID: 32975591
Deloison B, Sonigo P, Millischer-Bellaiche AE, Quibel T, Cavallin M, Benoist G, Quelin C, Jouk PS, Lev D, Alison M, Baumann C, Beldjord C, Razavi F, Bessières B, Boddaert N, Ville Y, Salomon LJ, Bahi-Buisson N
Eur J Med Genet 2018 Dec;61(12):773-782. Epub 2018 Nov 1 doi: 10.1016/j.ejmg.2018.10.015. PMID: 30391507
Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB
J Pediatr 2017 Jul;186:118-123.e6. Epub 2017 Apr 28 doi: 10.1016/j.jpeds.2017.03.045. PMID: 28457522Free PMC Article
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
Brain 2013 Nov;136(Pt 11):3378-94. Epub 2013 Sep 20 doi: 10.1093/brain/awt249. PMID: 24056535
Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R
Neurology 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. PMID: 11914408

Recent systematic reviews

Bourdillon P, Cucherat M, Isnard J, Ostrowsky-Coste K, Catenoix H, Guénot M, Rheims S
Epilepsia 2018 Dec;59(12):2296-2304. Epub 2018 Oct 21 doi: 10.1111/epi.14584. PMID: 30345535

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